Kearns Sayre Syndrome

Important
It is possible that the main title of the report Kearns Sayre Syndromeis not the name you expected.

Synonyms

Chronic Progressive External Ophthalmoplegia and Myopathy
CPEO with Myopathy
CPEO with Ragged-Red Fibers
KSS
Mitochondrial Cytopathy, Kearn-Sayre Type
Oculocraniosomatic Syndrome (obsolete)
Ophthalmoplegia, Pigmentary Degeneration of the Retina and Cadiomyopathy
Kearns-Sayre Disease
Chronic Progressive External Ophthalmoplegia with Ragged Red Fibers
Ophthalmoplegia Plus Syndrome

Disorder Subdivisions

None

General Discussion

Kearns-Sayre Syndrome is a rare neuromuscular disorder characterized by three primary findings: progressive paralysis of certain eye muscles (chronic progressive external ophthalmoplegia [CPEO]); abnormal accumulation of colored (pigmented) material on the nerve-rich membrane lining the eyes (atypical retinitis pigmentosa), leading to chronic inflammation, progressive degeneration, and wearing away of certain eye structures (pigmentary degeneration of the retina); and heart disease (cardiomyopathy) such as heart block. Other findings may include muscle weakness, short stature, hearing loss, and/or the loss of ability to coordinate voluntary movements (ataxia) due to problems affecting part of the brain (cerebellum). In some cases, Kearns-Sayre Syndrome may be associated with other disorders and/or conditions.

Kearns-Sayre Syndrome belongs (in part) to a group of rare neuromuscular disorders known as mitochondrial encephalomyopathies. Mitochondrial encephalomyopathies are disorders in which a defect in genetic material arises from a part of the cell structure that releases energy (mitochondria), causing the brain and muscles to function improperly (encephalomyopathies). In these disorders, abnormally high numbers of defective mitochondria are present. In approximately 80 percent of cases of Kearns-Sayre Syndrome, tests will reveal missing genetic material (deletion) involving the unique DNA in mitochondria (mtDNA).

Resources

National Association for Visually Handicapped
22 West 21st Street
New York
NY
10010
USA
Tel: (212)889-3141
Fax: (212)727-2931
staff@navh.org
http://www.navh.org

Chromosome
11435 Cronhill Drive
Owings Mills
MD
21117-2220
Tel: (410)568-0150
Fax: (410)363-2393
800: (800)683-5555
TDD: (800)683-5551
info@blindness.org
http://www.fightblindness.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains
NY
10605
Tel: (914)428-7100
Fax: (914)997-4763
800: (888)663-4637
Askus@marchofdimes.com
http://www.marchofdimes.com

United Mitochondrial Disease Foundation
8085 Saltsburg Road
Suite 201
Pittsburgh
PA
15239
United States
Tel: (412)793-8077
Fax: (412)793-6477
info@umdf.org
http://www.umdf.org

American Heart Association
National Center
7272 Greenville Avenue
Dallas
TX
75231-4596
Tel: (214)373-6300
Fax: (214)373-0268
800: (800)242-8721
inquire@heart.org
http://www.americanheart.org

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda
MD
20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
800: (877)226-4267
TDD: (301)565-2966
NIAMSinfo@mail.nih.gov
http://www.niams.nih.gov/Health_Info

NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda
MD
20892-2510
United States
Tel: (301)496-5248
Fax: (301)402-1065
2020@nei.nih.gov
http://www.nei.nih.gov/

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda
MD
20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
800: (800)352-9424
braininfo@ninds.nih.gov
http://www.ninds.nih.gov/

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 10/12/2007
Copyright 1987, 1996, 1999, 2000, 2001, 2007 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: October 12, 2007

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